Chronic Granulomatous DiseaseSymptoms, Doctors, Treatments, Advances & More
Learn About Chronic Granulomatous Disease
Chronic granulomatous disease is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency. Immunodeficiencies are conditions in which the immune system is not able to protect the body from foreign invaders such as bacteria and fungi. Individuals with chronic granulomatous disease may have recurrent bacterial and fungal infections. People with this condition may also have areas of inflammation (granulomas) in various tissues that can result in damage to those tissues. The features of chronic granulomatous disease usually first appear in childhood, although some individuals do not show symptoms until later in life.
Mutations in the CYBA, CYBB, NCF1, NCF2, or NCF4 gene can cause chronic granulomatous disease. There are five types of this condition that are distinguished by the gene that is involved. The proteins produced from the affected genes are parts (subunits) of an enzyme complex called NADPH oxidase, which plays an essential role in the immune system. Specifically, NADPH oxidase is primarily active in immune system cells called phagocytes. These cells catch and destroy foreign invaders such as bacteria and fungi. Within phagocytes, NADPH oxidase is involved in the production of a toxic molecule called superoxide. Superoxide is used to generate other toxic substances, which play a role in killing foreign invaders and preventing them from reproducing in the body and causing illness. NADPH oxidase is also thought to regulate the activity of immune cells called neutrophils. These cells play a role in adjusting the inflammatory response to optimize healing and reduce injury to the body.
Chronic granulomatous disease is estimated to occur in 1 in 200,000 to 250,000 people worldwide.
When chronic granulomatous disease is caused by mutations in the CYBB gene, the condition is inherited in an X-linked recessive pattern. The CYBB gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. Rarely, females with one altered copy of the CYBB gene have mild symptoms of chronic granulomatous disease, such as an increased frequency of bacterial or fungal infections.
Andrew Gennery practices in Newcastle Upon Tyne, United Kingdom. Mr. Gennery is rated as an Elite expert by MediFind in the treatment of Chronic Granulomatous Disease. His top areas of expertise are Primary Immunodeficiency (PID), Severe Combined Immunodeficiency (SCID), Chronic Granulomatous Disease, Bone Marrow Transplant, and Heart Transplant.
Felipe Suarez practices in Paris, France. Mr. Suarez is rated as an Elite expert by MediFind in the treatment of Chronic Granulomatous Disease. His top areas of expertise are Chronic Granulomatous Disease, Primary Immunodeficiency (PID), Ataxia-Telangiectasia, Bone Marrow Transplant, and Splenectomy.
Johns Hopkins All Children's Outpatient Care, St. Petersburg
Jennifer Leiding, M.D., is associate director for clinical research in the Johns Hopkins All Children’s Institute for Clinical and Translational Research and assistant director of the Center for Cellular and Gene Therapy in the Johns Hopkins All Children’s Cancer & Blood Disorders Institute. She is also an associate professor of pediatrics (pending academic review) based on the St. Petersburg, Florida, campus in the Johns Hopkins University of School of Medicine. Dr. Leiding, whose clinical specialty is allergy and immunology, focuses on strategic growth of, and mentorship in, clinical research and early-phase trials campus-wide, as well as cellular and gene therapies for cancer and blood disorders. Her personal line of research and national leadership focuses on cooperative multicenter studies of primary immunodeficiency diseases, including chronic granulomatous disease (CGD) and other rare diseases in children. She returned to Johns Hopkins All Children’s in 2024 after previously serving on the faculty at the USF Morsani College of Medicine and the medical staff of All Children’s for nearly a decade. In between, she worked as a medical director at a gene therapy-focused biotech company. Dr. Leiding earned her medical degree from USF before training there as an intern and resident in pediatrics. She completed her clinical and research fellowship in both allergy and immunology at the National Institute of Allergy and Infectious Diseases. Dr. Leiding is rated as an Elite provider by MediFind in the treatment of Chronic Granulomatous Disease. Her top areas of expertise are Chronic Granulomatous Disease, Primary Immunodeficiency (PID), Severe Combined Immunodeficiency (SCID), and Clouston Syndrome.
Summary: The goal of this clinical trial is to evaluate the safety and potential efficacy of the EN-374 treatment regimen and identify a dose level for further evaluation in participants with x-linked chronic granulomatous disease. The main questions it aims to answer are: * safety of the EN-374 treatment regimen * effect of the EN-374 treatment regimen on the production of functional neutrophils with NADP...
Background: Chronic granulomatous disease (CGD) is a rare immune disorder caused by a mutation in the CYBB gene. People with CGD have white blood cells that do not work properly and are at greater risk of getting infections. Gene therapy using lentivector has helped people with CGD. Researchers want to know if the base-edited stem cells can improve the white cells' functioning and result in fewer CGD-related ...
Published Date: January 01, 2016
Published By: National Institutes of Health